Gene | Exon | Nucleotide change | Amino acid change | Mutation type | 1000 Genomes | ExAc | In-house data |
---|---|---|---|---|---|---|---|
SACS | 10 | c.7802T > A | p.V2601D | Missense | 0 | 0 | 0 |
SACS | 10 | c.7901A > C | p.D2634A | Missense | 0 | 0 | 0 |
SACS | 10 | c.8000T > C | p.F2667S | Missense | 0 | 0 | 0 |
SACS | 10 | c.8793dupA | p.R2932fs | Insertion | 0 | 0.000008 | 0 |
SACS | 10 | c.10685_10689del | p.F3562fs | Deletion | 0 | 0 | 0 |
SACS | 10 | c.10938_10941del | p.K3646fs | Deletion | 0 | 0 | 0 |
SACS | 10 | c.11274_11276del | p.3758_3759del | Deletion | 0 | 0 | 0 |
SACS | 10 | c.11319_11321del | p.3773_3774del | Deletion | 0 | 0 | 0 |
SACS and 5 others | - | chr13:23490196-24866656 del | – | Deletion | 0 | 0 | 0 |
SYNE1 | 5 | c.253C > T | p.R85X | Nonsense | 0 | 0.000008 | 0 |
SYNE1 | 10 | c.909 + 1G > A | – | Splicing | 0 | 0 | 0 |
SYNE1 | 27 | c.3280A > T | p.K1094X | Nonsense | 0 | 0 | 0 |
SYNE1 | 57 | c.9158delA | p.E3053fs | Deletion | 0 | 0 | 0 |
SYNE1 | 65 | c.10435C > T | p.R3479X | Nonsense | 0 | 0 | 0 |
SYNE1 | 82 | c.15817delG | p.E5273fs | Deletion | 0 | 0 | 0 |
SYNE1 | 93 | c.17531_17532insTC | p.H5844fs | Insertion | 0 | 0 | 0 |
SYNE1 | 114 | c.20837delT | p.L6946fs | Deletion | 0 | 0 | 0 |
SYNE1 | 131 | c.23765 + 1G > A | – | Splicing | 0 | 0 | 0 |
ADCK3 | 6 | c.812G > A | p.R271H | Missense | 0 | 0.000048 | 0 |
ADCK3 | 7 | c.901C > T | p.R301W | Missense | 0 | 0.000033 | 0 |
ADCK3 | 8 | c.960delG | p.L320fs | Deletion | 0 | 0.000009 | 0 |
ADCK3 | 10 | c.1228C > T | p.R410X | Nonsense | 0 | 0.000017 | 0 |
ADCK3 | 15 | c.1793G > A | p.R598H | Missense | 0 | 0.000008 | 0 |
ADCK3 | 15 | c.1844dupG | p.S616fs | Insertion | 0 | 0.000082 | 0 |
SETX | 3 | c.128G > A | p.C43Y | Missense | 0 | 0 | 0 |
SETX | 10 | c.4818_4821dupAATT | p.A1608fs | Insertion | 0 | 0 | 0 |
SETX | 10 | c.5267T > C | p.F1756S | Missense | 0 | 0.000009 | 0 |
SETX | 23 | c.7011delT | p.V2337fs | Deletion | 0 | 0 | 0 |
SETX | 26 | c.7364A > G | p.Y2455C | Missense | 0 | 0.000008 | 0 |
ANO10 | 2 | c.132dupA | p.D45fs | Insertion | 0.000599 | 0.000441 | 0 |
SPTBN2 | 2 | c.73C > T | p.R25C | Missense | 0 | 0 | 0 |
SPTBN2 | 6 | c.622G > A | p.G208R | Missense | 0 | 0 | 0 |
STUB1 | 3 | c.433A > C | p.K145Q | Missense | 0.000599 | 0.000702 | 0 |
STUB1 | 3 | c.433_435delAAG | p.K145del | Deletion | 0 | 0.000017 | 0 |
TTPA | 4 | c.553G > T | p.D185Y | Missense | 0.000199 | 0 | 0 |
ATM | 20 | c.2922_2923insAA | p.S974fs | Insertion | 0 | 0 | 0 |
ATM | 45 | c.6503C > T | p.S2168L | Missense | 0.000200 | 0.000058 | 0.001754 |
KIF1C | 23 | c.2663_2664insGAGGT | p.V888fs | Insertion | 0 | 0 | 0 |
Gene | Predicted impact | dbSNP | HGMD | Family Segre-gation | ACMG | |
---|---|---|---|---|---|---|
Evidence | Classification | |||||
SACS | D/P/D | NA | Novel | NA | PM1,PM2,PP3,PP4 | LP |
SACS | D/D/A | NA | Novel | Yes | PM1,PM2,PP1,PP3,PP4 | LP |
SACS | D/D/D | NA | Novel | Yes | PM2,PM3,PP1,PP3,PP4 | LP |
SACS | NA/NA/NA | rs767871841 | Novel | Yes | PVS1,PM2,PP1,PP4 | P |
SACS | NA/NA/NA | NA | Novel | Yes | PVS1,PM2,PP1,PP4 | P |
SACS | NA/NA/NA | NA | Novel | Yes | PVS1,PM2,PP1 | P |
SACS | NA/NA/NA | rs1454517884 | Known | Yes | PM2,PM4,PP1,PP5 | LP |
SACS | NA/NA/NA | NA | Novel | Yes | PM2,PM4,PP1,PP4 | LP |
SACS and 5 others | NA/NA/NA | NA | Novel | Yes | 1A,2A,3A,4A,5A | P |
SYNE1 | NA/NA/A | rs768958602 | Novel | Yes | PVS1,PM2,PP1,PP3 | P |
SYNE1 | NA/NA/NA | NA | Novel | Yes | PVS1,PM2,PP1,PP3 | P |
SYNE1 | NA/NA/A | NA | Novel | Yes | PVS1,PM2,PM3,PP1 | P |
SYNE1 | NA/NA/NA | NA | Novel | NA | PVS1,PM2 | LP |
SYNE1 | NA/NA/A | NA | Novel | Yes | PVS1,PM2,PP1,PP3 | P |
SYNE1 | NA/NA/NA | NA | Novel | Yes | PVS1,PM2,PM3,PP1 | P |
SYNE1 | NA/NA/NA | NA | Novel | Yes | PVS1,PM2,PM3,PP1 | P |
SYNE1 | NA/NA/NA | NA | Novel | Yes | PVS1,PM2,PP1 | P |
SYNE1 | NA/NA/D | NA | Novel | Yes | PVS1,PM2,PP1,PP3 | P |
ADCK3 | D/D/D | rs765859566 | Novel | Yes | PM2,PP1,PP3 | VUS |
ADCK3 | D/D/D | rs140246430 | Known | Yes | PS1,PM2,PP1,PP3,PP5 | LP |
ADCK3 | NA/NA/NA | rs767164059 | Novel | Yes | PVS1,PM2,PP1 | P |
ADCK3 | NA/NA/A | rs753254213 | Known | Yes | PVS1,PM2,PP1,PP3,PP5 | P |
ADCK3 | D/D/D | rs766101783 | Novel | Yes | PM2,PM3,PP1,PP3 | LP |
ADCK3 | NA/NA/NA | rs863223885 | Known | Yes | PVS1,PM2,PP1,PP5 | P |
SETX | D/D/D | NA | Novel | Yes | PM2,PM3,PP1,PP3 | LP |
SETX | NA/NA/NA | NA | Novel | Yes | PVS1,PM2,PP1 | P |
SETX | D/D/D | rs762175796 | Known | Yes | PS1,PM2,PM3,PP1,PP3, PP5 | P |
SETX | NA/NA/NA | NA | Novel | Yes | PVS1,PM2,PP1 | P |
SETX | D/D/D | rs778210918 | Novel | NA | PM2,PP3,PP4 | VUS |
ANO10 | NA/NA/NA | rs540331226 | Known | Yes | PVS1,PS1,PM2,PP1,PP5 | P |
SPTBN2 | D/D/D | NA | Novel | Yes | PM1,PM2,PP1,PP3 | LP |
SPTBN2 | D/D/D | NA | Novel | Yes | PM1,PM2,PP1,PP3 | LP |
STUB1 | T/P/D | rs146251364 | Known | Yes | PS1,PM1,PM2,PP1,PP5 | P |
STUB1 | NA/NA/NA | rs779647632 | Known | Yes | PS1,PM2,PM3,PM4,PP1 | P |
TTPA | D/D/D | rs564501015 | Novel | Yes | PM1,PM2,PP1,PP3 | LP |
ATM | NA/NA/NA | NA | Novel | Yes | PVS1,PM2,PP1 | P |
ATM | D/D/D | rs200431631 | Known | Yes | PM1,PM2,PM3,PP1,PP5 | LP |
KIF1C | NA/NA/NA | NA | Novel | Yes | PVS1,PM2,PP1 | P |